Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder

Various chromosomal anomalies including small supernumerary marker chromosome (sSMC) and Uniparental disomy (UPD) have been described in association with intellectual disability and autism spectrum disorder. Based on our reported findings, we recommend that patients with sSMC(8) be evaluated for aut...

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Ahram, Dina F., Stambouli, Danae, Syrogianni, Aleksandra, Al‐Sarraj, Yasser, Gerou, Spyridon, El‐Shanti, Hatem, Kambouris, Marios
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5134130/
https://ncbi.nlm.nih.gov/pubmed/27980747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.705
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